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https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#1
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229296/increased-expression-of-il12b-mrna-transcribed-from-the-risk-haplotype-for-crohn-s-disease-is-a-risk-factor-for-disease-relapse-in-japanese-patients
#2
Yoichi Kakuta, Tomoya Kimura, Kenichi Negoro, Masatake Kuroha, Hisashi Shiga, Katsuya Endo, Yoshitaka Kinouchi, Tooru Shimosegawa
BACKGROUND: IL12B is a promising candidate for a susceptibility gene in Crohn's disease (CD). The aim of this study was to perform a candidate gene analysis of IL12B in Japanese CD patients, investigate whether the genotype is associated with disease phenotypes, and determine how the risk allele affects susceptibility to CD. METHODS: Three hundred seventy-five patients with CD, 265 patients with ulcerative colitis, and 463 healthy controls were examined. Ten single-nucleotide polymorphisms (SNPs) around IL12B were genotyped...
February 22, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28228423/the-role-of-gluten-consumption-at-an-early-age-in-celiac-disease-development-a-further-analysis-of-the-prospective-preventcd-cohort-study
#3
Paula Crespo-Escobar, Maria Luisa Mearin, David Hervás, Renata Auricchio, Gemma Castillejo, Judit Gyimesi, Eva Martinez-Ojinaga, Katharina Werkstetter, Sabine Lisa Vriezinga, Ilma Rita Korponay-Szabo, Isabel Polanco, Riccardo Troncone, Els Stoopman, Sanja Kolaček, Raanan Shamir, Hania Szajewska, Sibylle Koletzko, Carmen Ribes-Koninckx
Background: We previously found that the introduction of small quantities of gluten at 4-6 mo of age did not reduce the risk of celiac disease (CD) in a group of high-risk children. However, the consumption of high amounts of gluten early in life has been suggested to increase CD risk.Objective: The aim of this study was to evaluate this hypothesis by using data from the previous study of the PreventCD trial (www.preventcd.com).Design: Gluten intake was prospectively quantified by using specific food records between 11 and 36 mo of age in 715 children positive for the human leukocyte antigen (HLA)-DQ2 and/or HLA-DQ8 from 5 European countries...
February 22, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28225862/association-between-c1q-gene-polymorphisms-and-autoimmune-thyroid-diseases
#4
Qiuming Yao, Jie Li, Xiaofei An, Wenjuan Jiang, Qiu Qin, Ronghua Song, Ni Yan, Danfeng Li, Yanfei Jiang, Wen Wang, Liangfeng Shi, Jin-An Zhang
Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnically- and geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped...
February 16, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28224622/slc2a3-single-nucleotide-polymorphism-and-duplication-influence-cognitive-processing-and-population-specific-risk-for-attention-deficit-hyperactivity-disorder
#5
Sören Merker, Andreas Reif, Georg C Ziegler, Heike Weber, Ute Mayer, Ann-Christine Ehlis, Annette Conzelmann, Stefan Johansson, Clemens Müller-Reible, Indrajit Nanda, Thomas Haaf, Reinhard Ullmann, Marcel Romanos, Andreas J Fallgatter, Paul Pauli, Tatyana Strekalova, Charline Jansch, Alejandro Arias Vasquez, Jan Haavik, Marta Ribasés, Josep Antoni Ramos-Quiroga, Jan K Buitelaar, Barbara Franke, Klaus-Peter Lesch
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory-inhibitory balance impacting both brain development and activity-dependent neural plasticity...
February 22, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28224497/hidden-markov-models-in-population-genomics
#6
Julien Y Dutheil
With the advent of sequencing techniques population genomics took a major shift. The structure of data sets has evolved from a sample of a few loci in the genome, sequenced in dozens of individuals, to collections of complete genomes, virtually comprising all available loci. Initially sequenced in a few individuals, such genomic data sets are now reaching and even exceeding the size of traditional data sets in the number of haplotypes sequenced. Because all loci in a genome are not independent, this evolution of data sets is mirrored by a methodological change...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28224433/association-of-hla-alleles-a-b-drb1-and-hiv-1-infection-in-the-han-population-of-hubei-china
#7
Wang-Xia Li, Jia-An Xia, Xia Zhou, Yan Ma, Gang Shen, Feng-Wu Qiu
The HIV susceptibility and resistance alleles in the HLA genes were determined by investigating the distribution characteristics of the HLA alleles (A, B, and DRB1) in HIV-infected individuals of the Han population in Hubei, and by comparing these alleles with HIV-negative individuals from the same area. A cohort of 424 HIV-1 infected individuals were chosen as study subjects, and 836 HIV-negative healthy subjects from the same area served as the control population. HLA-A, B, and DRB1 allele typing was performed using polymerase chain reaction-sequence-specific oligonucleotide probes (PCR-SSOP) and polymerase chain reaction-sequencing based typing (PCR-SBT) techniques...
February 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28223988/the-impact-of-genotyping-by-sequencing-pipelines-on-snp-discovery-and-identification-of-markers-associated-with-verticillium-wilt-resistance-in-autotetraploid-alfalfa-medicago-sativa-l
#8
Long-Xi Yu, Ping Zheng, Suresh Bhamidimarri, Xiang-Ping Liu, Dorie Main
Verticillium wilt (VW) of alfalfa is a soilborne disease causing severe yield loss in alfalfa. To identify molecular markers associated with VW resistance, we used an integrated framework of genome-wide association study (GWAS) with high-throughput genotyping by sequencing (GBS) to identify loci associated with VW resistance in an F1 full-sib alfalfa population. Phenotyping was performed using manual inoculation of the pathogen to cloned plants of each individual and disease severity was scored using a standard scale...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28222695/evolution-and-expression-of-the-fructokinase-gene-family-in-saccharum
#9
Yihong Chen, Qing Zhang, Weichang Hu, Xingtan Zhang, Liming Wang, Xiuting Hua, Qingyi Yu, Ray Ming, Jisen Zhang
BACKGROUND: Sugarcane is an important sugar crop contributing up to about 80% of the world sugar production. Efforts to characterize the genes involved in sugar metabolism at the molecular level are growing since increasing sugar content is a major goal in the breeding of new sugarcane varieties. Fructokinases (FRK) are the main fructose phosphorylating enzymes with high substrate specificity and affinity. RESULTS: In this study, by combining comparative genomics approaches with BAC resources, seven fructokinase genes were identified in S...
February 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28220908/hsp70-hspa1-polymorphisms-in-former-workers-with-chronic-mercury-vapor-exposure
#10
Yury I Chernyak, Alla P Merinova
OBJECTIVES: To investigate 4 loci of 3 HSP70 genes in caustic soda production plant former workers, who have been exposed to metallic mercury vapors for a long time, and including numerous cases of chronic mercury intoxication (CMI). MATERIAL AND METHODS: Polymorphisms in HSP70 gene family members (HSP1A1 (+190G/C, rs1043618), HSPA1B (+1267A/G and +2074G/C, rs1061581) and HSP1AL (+2437T/C, rs2227956)) genes were studied among 120 male workers involved in caustic soda production by mercury electrolysis at 2 plants in Eastern Siberia...
February 21, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/28220744/burden-genotype-and-phenotype-profiles-of-adult-patients-with-sickle-cell-disease-in-cape-town-south-africa
#11
G D Pule, K Mnica, M Joubert, S Mowla, N Novitsky, A Wonkam
BACKGROUND: An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. OBJECTIVES: To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. METHODS: (i) A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globin-like genes cluster, the 3...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#12
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220277/establishment-of-a-heteroplasmic-mouse-strain-with-interspecific-mitochondrial-dna-haplotypes-and-improvement-of-a-pcr-rflp-based-measurement-system-for-estimation-of-mitochondrial-dna-heteroplasmy
#13
Hiroshi Shitara, Liqin Cao, Midori Yamaguchi, Hiromichi Yonekawa, Choji Taya
Mitochondrial DNA segregation is one of the characteristic modes of mitochondrial inheritance in which the heteroplasmic state of mitochondrial DNA is transmitted to the next generation in variable proportions. To analyze mitochondrial DNA segregation, we produced a heteroplasmic mouse strain with interspecific mitochondrial DNA haplotypes, which contains two types of mitochondrial DNA derived from C57BL/6J and Mus spretus strains. The strain was produced on a C57BL/6J nuclear genomic background by microinjection of donor cytoplasm into fertilized eggs...
February 20, 2017: Transgenic Research
https://www.readbyqxmd.com/read/28220139/genome-wide-single-nucleotide-polymorphism-discovery-and-the-construction-of-a-high-density-genetic-map-for-melon-cucumis-melo-l-using-genotyping-by-sequencing
#14
Che-Wei Chang, Yu-Hua Wang, Chih-Wei Tung
Although genotyping-by-sequencing (GBS) enables the efficient and low-cost generation of large numbers of markers, the utility of resultant genotypes are limited, because they are enormously error-prone and contain high proportions of missing data. In this study, we generated single nucleotide polymorphism (SNP) markers for 109 recombinant inbred lines of melon (Cucumis melo L.) using the GBS approach and ordered them according to their physical position on the draft double haploid line DHL92 genome. Next, by investigating associations between these SNPs, we discovered that some segments on the physical map conflict with linkage relationships...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28219779/correlations-of-egf-g1380a-bfgf-c754g-and-vegf-t460c-polymorphisms-with-malignant-melanoma-susceptibility-and-prognosis-a-case-control-study
#15
Xin-Hua Wang, Zi-Wen Long
This case-control study aims to investigate the correlations of EGF G1380A, bFGF C754G and VEGF T460C polymorphisms with the susceptibility and prognosis of malignant melanoma. A total of 153 patients with multiple primary melanomas were collected as the case group and another 170 healthy individuals were selected as the control group. ELISA and PCR-RFLP were performed to test the serum level of VEGF and to analyze the genotype as well as allele frequencies of VEGF T460C, EGF G1380A, and bFGF C754G, respectively...
February 17, 2017: Gene
https://www.readbyqxmd.com/read/28218792/chloroplast-diversity-of-casearia-grandiflora-in-the-cerrado-of-piau%C3%A3-state
#16
M F Costa, A A Pereira, J B Pinheiro, M I Zucchi, A S F Araújo, R L F Gomes, S E S Valente, M E A Oliveira, A C A Lopes
Casearia grandiflora (Salicaceae) is a typical Cerrado species adapted to disturbed environments, making it useful for restoration projects. Knowledge of genetic diversity is important for establishing conservation strategies for this species. This study aimed to compare chloroplast haplotype diversity and structure of C. grandiflora, under the assumption that protected areas hold greater genetic diversity than disturbed areas. The populations studied are from Parque Nacional de Sete Cidades Conservation Unit and from the surroundings of the city of Cocal de Telha, both located in the State of Piauí...
February 16, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28218017/molecular-and-clinical-analysis-of-haemoglobin-lepore-in-campania-a-region-of-southern-italy
#17
Paolo Ricchi, Massimiliano Ammirabile, Anna Spasiano, Silvia Costantini, Tiziana Di Matola, Patrizia Cinque, Caterina Saporito, Aldo Filosa, Leonilde Pagano
OBJECTIVE: To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies. METHODS: Here we report the results of a retrospective analysis on 33 patients from Campania, a region of Southern Italy, historically followed at 'UOSD Malattie Rare del Globulo Rosso' of Cardarelli hospital, Naples, Italy. RESULTS: We described 33 patients carrying the Hb Lepore variant: 21 compound heterozygotes with a common thalassaemia allele, six patients with homozygous state for Hb Lepore, five patients with Hb Lepore/Hb S and one patient with Hb Lepore/Hb Neapolis were identified...
February 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28217908/molecular-polymorphisms-of-the-abo-locus-as-informative-markers-of-ancestry-in-central-argentina
#18
María Pía Tavella, Angelina García, Maia Pauro, Darío A Demarchi, Rodrigo Nores
OBJECTIVES: The aim of this study was to investigate the distribution of molecular polymorphisms of the ABO gene in four population samples from the province of Córdoba, in Central Argentina, and to compare them with other worldwide populations. METHODS: A total of 110 buccal swab samples from autochthonous individuals of Córdoba were typified. Molecular characterization of the allelic variants was performed by the analysis of exons 6 and 7 of the ABO gene using PCR-RFLP analysis...
February 20, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28216259/role-of-foxp3-gene-polymorphism-in-the-susceptibility-to-tunisian-endemic-pemphigus-foliaceus
#19
Mariem Ben Jmaa, Olfa Abida, Emna Bahloul, Amina Toumi, Sana Khlif, Raouia Fakhfakh, Nesrine Elloumi, Khadija Sellami, Abderrahmen Masmoudi, Hamida Turki, Hatem Masmoudi
OBJECTIVE: Forkhead box P3 (FOXP3) is an essential and crucial transcription factor of regulatory T-cells. Genetic polymorphisms in the promoter region of FOXP3 gene may alter the gene expression level and, therefore, contribute to several autoimmune diseases susceptibility. We aimed to investigate the possible role of genetic variants of four SNPs (rs3761547, rs3761548, rs3761549 and rs2294021) and a (GT)n microsatellite located in FOXP3 gene in the susceptibility to Tunisian Pemphigus Foliaceus (PF)...
February 16, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28216081/decreased-calcium-pump-expression-in-human-erythrocytes-is-connected-to-a-minor-haplotype-in-the-atp2b4-gene
#20
Boglárka Zámbó, György Várady, Rita Padányi, Edit Szabó, Adrienn Németh, Tamás Langó, Ágnes Enyedi, Balázs Sarkadi
Plasma membrane Ca(2+)-ATPases are key calcium exporter proteins in most tissues, and PMCA4b is the main calcium transporter in the human red blood cells (RBCs). In order to assess the expression level of PMCA4b, we have developed a flow cytometry and specific antibody binding method to quantitatively detect this protein in the erythrocyte membrane. Interestingly, we found several healthy volunteers showing significantly reduced expression of RBC-PMCA4b. Western blot analysis of isolated RBC membranes confirmed this observation, and indicated that there are no compensatory alterations in other PMCA isoforms...
February 3, 2017: Cell Calcium
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